Partly Sunny With a Chance of Hopeful Weepies

I found this the other day. It made me stop because it is kind of like this, finding out I'm a carrier for Fragile X was like expecting to have a certain life, expecting a certain type of pregnancy, expecting certain kinds of kids and finding out I am somewhere else altogether. Not somewhere bad or horrible but somewhere VERY different than what I had planned or expected. So it is a loss. It might also be a gain and a purpose. My friend Dionna told me that maybe this would be my calling after I process my own feelings about this [she suggested this after hearing me rant and rave about how mad as hell I am that we don't know very much as a populous about Fragile X and that not every state automatically tests for this like it does for other things like Cystic Fibrosis, Muscular Dystrophy, and Down's Syndrome]. Maybe she's right. For now though, this explains my head and heart pretty well.

"WELCOME TO HOLLAND

by
Emily Perl Kingsley.

c1987 by Emily Perl Kingsley. All rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......

When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.

But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland."




Thanks to the archives at our-kids.org for this poem. It helped, a lot.



 

Cloudy With a Chance of Crazy Train

I got a call Friday morning that woke me up from sleep. It was my genetic counselor calling to tell me the preliminary results from my amniocentesis. She told me that our baby inherited my carrier X chromosome, that the mutation only went up by one repeat though (I have 58 repeats and our baby has 59 repeats). She said that it was good news, not the best but good news. She warned that as a carrier there comes risks & issues. Females carriers have a 20% chance of premature ovarian failure over the age of thirty (this includes me by the way, I could have premature ovarian failure). That in males they definitely pass on this X chromosome to their daughters which means grandchildren could be carriers or have a full mutation. In both males & females over the age of fifty there are increased chances of tremors, seizures, short-term memory loss, and early onset dementia. These are not the things you want to hear or think about. To say I had mixed feelings is an understatement.

 I felt a rush of relief. I felt a rush of fear. I felt a rush of gratitude and anger and sadness and elation and everything else under the sun. This was good news, not the best though. Not the best. Risks and issues. There's an increased chance in carriers for anxiety and depression. I think the reason I'm double jointed and hyperextensive in all my joints is being a carrier. Bigger forehead and ears that stick out, I've got those too. Are they FXS related as a carrier? I don't know. I was told that sooner rather than later I need to decide if I want to have more kids, as my ovaries can stop working. Not I've run out of eggs as in menopause style but that they literally shut down and so I lose all those potential eggs I have already.

It's really hard to talk to people about this too. Everyone immediately says things like "this is great, the baby will be perfect, you have nothing to worry about now" or "try not to think about all that, that's in the future, there could be loads of medicine and a cure by then" or "you don't have to decide right now about kids, everyone says how hard pregnancy is but once that little baby gets here it will all be worth it, you'll want more I know it". To all these things I want to scream "SHUT UP! YOU DON'T KNOW WHAT YOU'RE TALKING ABOUT!" and I know how harsh that sounds. I want to acknowledge how lovely and supportive people are being, they truly are and my heart is SO grateful beyond words for it. But, there is also a difference between the best and good news, there's a difference between silly worries and legitimate medical fact worries, there is a difference between a "normal" pregnancy and mine, and I DO have to decide soon, and I do need to talk about it now, and I can't wait and not think of it until later because there may not be a later for me and my ovaries. That is where I feel so frustrated. IT IS DIFFERENT.

And I get so angry. So damned angry when someone tells me not to feel how I feel. I am justified in feeling every way I feel because I feel it. That's the only reason I need. I would never tell anyone not to feel any way about any thing because if you're feeling it, you're feeling it for a reason and whatever the reason you're justified in it damn it. Don't tell me how to feel or think. Don't tell me not to worry or discuss. Don't tell me this is like what every other parent feels, it's not. Yes, having my boobs shoot up to a cup size of G at only 4 months sucks, having areolas the size of silver dollars is gross, having a constant discharge in my pants is disgusting, the acne ALL over my body repulses even me, and my nails and hair aren't growing better, and I cry and am angry all the time and feel insane. Yes, all of those things suck, a lot. Pregnant ladies are awesome for going through what they go through. But, and I may sound like a jerk here, BUT all that shit doesn't fucking matter to me anymore because this is SO MUCH BIGGER. So much more. And it's overwhelming. There's still loads to think about, to decide, there's still issues and risks that may pop up, there is still just so much.

Plus, and even worse for a pressure-producer like me, every decision feels like it's on this immediate timeline and then I pressure myself internally to make it faster and these are not fast decisions people. I know I should breathe and enjoy this pregnancy and wait until the baby is born BUT I also have to think about if I want to go through this hell again. Can I feel this way again to have a natural child? Can I handle an amnio again? Can I handle all the testing and waiting again? Can I handle the stress and the not knowing? Am I ready to give up having more natural children and just adopt? We wanted to adopt anyway and have a big mixed family but is this the better option for us now, just adopt? Should we try to save up $35k+ for IVF & PGD testing to guarantee embryos with my good X? Do we get an egg donor? WHAT DO WE DO?! Decide sooner rather than later, oh by the way it starts at 30, you'll be 29 when you deliver so you should know pretty much by then. AHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHH!

I know that a lot of this is internal pressure. I have always put a lot of pressure on myself. I am trying not to do that. I really, really am. I also recognize though that I need to precess this. I NEED TO. I am trying to process all of the stuff that comes with me, myself being a carrier. The stuff that possibly comes with my body, my ovaries, my future mental capacities, my future physical capacities, my possibilities of future children, who I am physically and mentally today and are they related to being a carrier, all of that. Realizing that things I considered as "guarantees" in my life aren't anymore. I am also trying to process for the child within me all of the stuff that comes with the fact that they are carriers. Their future mental capacities, their future physical capacities, their possibilities of future children, who they will be physically and mentally and will they related to being a carrier, all of that. I am also trying to decide and process for the possibility of other future natural born children I may have. It.is.a.lot. A lot, a lot. I'm trying to give myself time and patience and love and reminding myself to be grateful.

But also I am pissed off. I am sad. I am mad. I am enraged. I am fed up with the medical industry. This is the MOST COMMON form of genetic disability and no one knows about it. 1 in 260 women are carriers and 1 in 800 men are carriers and no one knows about it. There are clinics and support groups across the nation (and world actually) and no one knows about it. It's more common than childhood diabetes (About 1 in every 400 children and adolescents has diabetes [http://www.diabetes.org/diabetes-basics/diabetes-statistics/]) and no one knows about it. It's almost as common as muscular dystrophy and cystic fibrosis and yet NO ONE KNOWS ABOUT IT.  I'm not making this up. It's all over the place it's just not talked about like CF or MD or Autism or Down's Syndrome. And I don't know why that is. I really don't. I read the following things like this and this and even this and have to wonder-HOW ARE WE NOT INFORMED AS A PUBLIC ABOUT THIS?! Why is this so unknown, misdiagnosed, etc. when it is the most common genetic cause of disabilities? I get really angry about it. I really do. I know that I am a bit skewed in my view of the industry that is medicine anyway after my ten year spine battle but it should not be this much of a fight over common issues. I found out the state of Michigan (where I am originally from) doesn't test for this like it does with CF, MD, Down's automatically when maternal blood panels are done. Oh and if you ask to be test it's $1500 to test for FX unless you can convince your insurance to cover it. WHAT?! That is disgraceful, it is just as common as the other issues yet it is not being tested for. Please believe it isn't just good ol' MI either, this happens in MOST states in this country. Yep, most states DO NOT test for Fragile X unless the parent specifically asks for it. I call a mega-hardcore BULLSHIT on that U.S.A. That is totally idiotic. No other way to put it. Again, the most common genetic cause of disability is not being tested for in a pregnant woman's blood panels. Riddle me this, WHY?! There is no answer. Literally none. I've been asking.

My own OB (whom I adore) who has been an OB/GYN for 20+ years had no clue about this because it is not talked about. She has taken it upon herself to get cozy with my genetic counselor and learn as much as she can and has been SO supportive (she even called us whilst she was on her vacation to check on us) but she still had no idea about this. WHAT?! Medical Industry: I am calling you out son. You and I are going head to head here buddy. You suck. You are not doing your collective job to care for and inform and treat patients. Most people don't find out they're even a carrier until their child/children is/are diagnosed with a full mutation and have Fragile X Syndrome. That is not okay. For once, I want the people in charge (Surgeon General, FDA, all of the agencies/groups/people in charge) to be folks like me who have had some sort of medical issue they have had to fight over and advocate about to make the decisions. I'm sorry unless you've been in hospitals, working with doctors, calling insurance companies, fighting with billing, etc. you don't know what it really means to deal with the industry that is medicine. It is an industry. It is a straight up business which unfortunately does not have the patients interests at heart. So many lovely doctors and nurses and professionals do have our interests at heart but the industry in general does not. I'm frustrated and angry about it.

It is a lot. I know the hormones don't help, I know that there is a little bit of time, I know most everyone who is talking to me supports (and usually loves) me but I also feel torn, sad, angry, happy, excited, and frightened. Anyone who tells me not to has a death wish. I'm crazy hormonal enough that I could snap one day in these next months, it could happen. Don't get me wrong I am still enjoying what I can, laughing when I can, loving when I can and that is pretty often. I am, however, also in turmoil. These thoughts/feelings/fears/risks/issues are on the front burner and not the back and I can't move them back there. I just want to talk to people who really get it and for those who've not been here to think before they speak and to tread lightly. I found the FXS group that is on Facebook that is the National and International go to board, they have helped a lot. I just need someone in real life I think. I might reach out to the support group here in Los Angeles that fragilex.org lists. It's worth a shot. Right now I am very overwhelmed with feelings and thoughts and just want to chat with someone who is also here or been here.

Blerg. So that's what is going on here. Crazy train party of one. Well I guess two, poor baby is on the ride as well. We did find out what gender the baby is so I'm trying to set up a photo shoot, calling all Los Angeles photographers who won't kill my pocketbook, wanna shoot our crazy little family with some colored balloons outside? Yay or Nay? C'mon crazy is fun, right? Even I can't fool myself with that one. Oh well.

Hope all is well with you and your dear chickens! :)

Cloudy With a Chance of Cramping

Last week was tough, Saturday I was really angry, Sunday I was exhausted, same with yesterday. Today I had my amniocentesis. I was really nervous going in. Also in the waiting room. Then they brought me back and we did some preliminary ultrasound pictures and measurements. Then the doctor came in for my amnio, we did the local and then my squiggly wiggly child went everywhere he tried to stick the needle. After four times of trying to needle me and failing the doctor took a break so I could relax and so could our little one. After a few he came back in and gave me more local anesthesia and needled me again. This time it worked and we got the fluid. The needle sticks were painful and caused cramping but the removal of the fluid was like being vacuumed on the inside. Immediately after I was cramping and in pain. They told me I will cramp for 1-7 days and probably bruise. The fluid was a clear yellow though so that means baby didn't get needled. I am also supposed to stay off my feet for seven days, they did not forewarn me of this. So now we wait. We wait for 10-14 days to find out about the Fragile X and then up to a month for everything. Joe is supposed to blood work tomorrow. They did more blood work on me today too. Hopefully we find out as much as we can as soon as we can.

Just a lot of pain and cramping today. It'll be worth it for what we find out but boy am I feeling it. We just have to be strong and brave and hope that little one got my good X chromosome. Doctor said looking at the ultrasound that the baby looks great and "normal", so based on pictures and measurements the incubation seems to be going well thus far. We shall see though.

I just wish that Fragile X was talked about more and taught to us, we all learn about so many issues and if this is the number one inherited cause of mental and physical disability then it should be more well known. No one has really heard of this as far as I have discovered. Out of the dozens of folks I have personally talked to (including some in the medical field) and all those on Facebook I've found ONE person who has heard of Fragile X. ONE. Just ONE. 1 in 160 women are carriers like me, 1 in 800 men are carriers. These are NOT high numbers. This should be known to the public. Most states, I've found out, don't even test for this like California does. This is something I think should be MANDATORY. Again, number one cause. Why the hell is this so unknown?! I just can't, it makes me so angry.

 Keep us in your thoughts and hearts. Thanks dear chickens.
 

Cloudy With A Chance of Crazy Alex

I'm a little all over the place. Here's an email I wrote to my pal:

"Yeah, it has been a year of crazy that is for sure. I feel like every time I start to feel like I'm getting my head above water Life pushes me back down. Good thing I'm a strong swimmer. Fucking-Ay it's been a tough damn year. I am pissy and crying and happy and crazed and exhausted at any moment. It all feels like an overwhelming whirlwind and I am just trying to keep swimming. I know it'll all work out the way it's going to and I'll deal it just feels like a ton of shit all at once all the time. Blerg.

In other news google ads keeps posting for plumbers and toilet paper next to this email thread because I've said shit so many times, haha. It's the little things that make me smile. I made Joe dance in our living room with me while I cried to "Hey-ho" by The Lumineers.  I feel like I could drink an entire liter of bourbon and it wouldn't make me feel better, I won't, but I feel like I could. Instead I watched A Goofy Movie, ate strawberry coconut milk ice cream from Trader Joe's, and have been non-stop singing Tevin Campbell's songs from the Goofy Movie soundtrack. I am all over the place today. Whatever.

Sigh. Lots of sighs really. I love our baby no matter what, I just wish it was all easier and everything was going well & healthily & "perfect". Life won't give me a challenge I can make it through though, I am determined. I feel very raw and tender and ferocious right now. That seems like a weird combo but *shrug* what're you gonna do but feel it right?

Love you friend. Loads and loads."


That seems to explain it pretty well for me right now. I am a mess and all over the damn place. One minute I know all will be well no matter what, the next I am crying and scared, the next I am numb. All.over.the.damn.place. So I am just listening to these songs right now, they too are all over the place:

 

Stormy With A Chance of Scared Sobbing

So we've had some scary news. We did a big blood panel at my last ob appointment and ultrasound where we check the neck. I got a call Tuesday about it. It went a little something like this:

Tuesday I got a call from my ob/gyn office saying they got my blood results back from the screening they do through the state to check for Down's syndrome, chromosome 18, & a bunch of other stuff. The receptionist said all was fine. I said great & hooray and went on with my day. Then later that afternoon my actual ob called to talk about my results. I have super low vitamin d so she wants me to take additional vitamins (no big deal), I'm not immune to rubella so I need to be vaccinated later (no big deal), oh and I am a "premutation carrier" for fragile X chromosome which is the most common cause of mental retardation in children. She doesn't know much about it so I need to talk to a genetic counselor, her receptionist will give me the info. So I, of course, set up the appointment for Wednesday and then look up online what that is. It's not great to read lists online of things that can go wrong on anything but this specifically made me worried about our little nugget.

Wednesday I saw the genetic counselor to get more info. It boils down to Fragile X can cause autism and major mental and physical retardation. I have a 50/50 shot of passing this on to our kids. If I do pass it on there is a 5% chance they get the worst case scenarios. Best case is they don't get the gene. Most likely case is they're carriers like I am. Now the delightful part for carriers is that in women you now have a 20% chance of premature ovarian failure, huzzah. This means if Joe and I want to have more genetic kids it needs to be sooner rather than later and we will go through this every time [testing if our child has this, is a carrier, etc.]. We also had to chat with the genetic counselor about whether or not we would terminate a mentally challenged child. These are not delightful conversations to have. They are really, really hard conversations to have. So I'm even more genetically broken, I could genetically break my kids, and then they could genetically break theirs, and so on down the line.  Then I get more blood drawn for more tests and I get an amneo test done next Tuesday to test for even more shit. So now I'm trying not to worry and panic but I am worrying and scared and tired and sad.

Every parent wants life to be amazing for their child with very little struggle. We may have a lifetime ahead for our child of struggle and we don't know yet. We are in limbo waiting. I'm scared. I'm sad. I'm worried. I'm struggling. I know the greatest chance is they will be carriers and live great lives but I don't want them to worry or struggle with this if/when they choose to have kids. This is really hard. It's really scary. It's pretty much all I am thinking about. And can I just say when someone tells you something like this and then says "don't worry" I feel you should have every right to laugh or punch them in their faces (or both). Right in their faces laugh at that dumb comment or just straight punch 'em. Ah yes, I won't worry about all these tests or my child or future children because you said not to, good call on that, I would have otherwise. Yes, I understand they are trying to reassure me & keep me from being upset, well I am upset so bite me! I will love this child and fight for this child their whole life no matter what but this is frightening. It's scary. It makes you shelve those lofty dreams for your kids that you sometimes let your imagination run away with and settles you right back into this moment of not knowing what tomorrow holds. This is where I am living right now.

So I ask you to please be a little gentle with me for a bit. Please be kind. Please go out of your way if you can to give me a hug or make me laugh my butt off. I need that. Because right now, I am struggling in this new mama-hood venture. I am waiting. I am scared. I am snuggling my belly extra tight and telling this little navel orange baby that I love them SO much. And I do. I am hoping for some more strength and bravery right now. I am pulling on every last ounce of what I've got to muster up the courage to ride into whatever battle I may need to ride into for this kid. I know I can fight, I know I'm vulnerable in the best ways, I know how fiercely I can love, I just hope it's all enough. Enough for my little one.


  



Edit: I found this resource tonight am reading up more about being a carrier, passing this gene along, and those with a full mutation of Fragile X.